Sunday, March 29, 2009

The Sorry State of Autism Research In Canada: Fombonne's Not So Revolutionary New Autism Paper

In Study Watch : Epidemiology of pervasive developmental disorders MJ, author of the Autism Jabberwocky Blog, comments on Canada's latest contribution to autism research from Dr. Eric Fombonne of the Department of Psychiatry, Montreal Children's Hospital of the McGill University Health Centre, Montreal. MJ feels that the study is largely a rehash of earlier attempts to deny the existence of real increases in autism.

I have not yet read Epidemiology of pervasive developmental disorders but from the head note (abstract) it appears that Dr. Fombonne's latest publication is simply offering a rehash of the statistical analysis and speculation used to assert that the startling increases in rates of autism diagnoses over the past decade and a half are all due to non-environmental causes, although even the article abstract acknowledges that other (environmental) causes can not be ruled out:

"The meaning of the increase in prevalence in recent decades is reviewed. There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend."

There is no dispute that a substantial increase in cases of "autism" diagnoses arises from the expansion of diagnostic criteria and improved awareness although as an advocate in New Brunswick Canada who fought hard, with other parent advocates, to establish autism services here I am much more skeptical about any substantial connection between the availability of services argument. New Brunswick has made great strides in providing autism intervention to pre-school and school age children with autism disorders in the past 5 years and some other provinces have also made significant gains but there are large gaps across this country and in the United States with respect to provision of effective, autism specific services. I would really have to be convinced that availability of services has been a significant factor in contributing to the increase in autism diagnoses.

Although most scientists believe that risk factors for ASD are both genetic and environmental, there is considerable debate about whether potential environmental causes, genetic precursors, or interactions between genes and environmental factors should be the highest priority for research aimed at identifying the causes of ASD. To date, few studies have ruled in or ruled out specific environmental factors. While there are reports of associations of ASD with exposure to medications or toxicants prenatally, and to infections after birth, it is still not known whether any specific factor is necessary or sufficient to cause ASD. Similar to other disease areas, advancing research on the potential role of environmental factors requires resources and the attraction of scientific expertise. Bringing this to bear on autism will help focus the environmental factors to study, as well as the best approach for staging studies to examine environmental factors, interaction between factors, and between individual susceptibility and various environmental factors.

For example, some researchers believe that it is important to study a large number of exposures, or classes of exposure, that are known to affect brain development. Others support more tightly focused studies of one exposure or a limited number of exposures, with greatest biologic plausibility for interacting with known or suspected biologic or genetic ASD risk factors. In addition, it is also important to design studies that assess environmental exposure during the most relevant exposure windows: pregnancy and early development. In doing this research, it will be important for the field to develop sound standards for identifying and claiming that environmental factors contribute to ASD, as it would be for genetics.

To address public concerns regarding a possible vaccine/ASD link, it will be important over the next year for the IACC to engage the National Vaccine Advisory Committee (NVAC) in mutually informative dialogues.The NVAC is a Federal advisory committee chartered to advise and make recommendations regarding the National Vaccine Program. Communication between the IACC and NVAC will permit each group to be informed by the expertise of the other, enhance coordination and foster more effective use of research resources on topics of mutual interest. Examples of such topics include: studies of the possible role of vaccines, vaccine components, and multiple vaccine administration in ASD causation and severity through a variety of approaches; and assessing the feasibility and design of an epidemiological study to determine whether health outcomes, including ASD, differ among populations with vaccinated, unvaccinated, and alternatively vaccinated groups.

Aspirational Goal: Causes of ASD will be Discovered that Inform Prognosis and Treatments and Lead to Prevention/Preemption of the Challenges and Disabilities Of ASD

Research Opportunities

* Genomic variations in ASD and the symptom profiles associated with these variations.

* Environmental influencesin ASD and the symptom profiles associated with these influences.

* Family studies of the broader autism phenotype that can inform and define the heritability of ASD.

* Studies in simplex families that inform and define de novo gene differences and the role of the environment in inducing these differences.

* Standardized methods for collecting and storing biospecimen resources from well-characterized people with ASD as well as a comparison group for use in biologic, environmental and genetic studies of ASD.

* Case-control studies of unique subpopulations of people with ASD that identify novel risk factors.

* Monitor the scientific literature regarding possible associations of vaccines and other environmental factors (e.g., ultrasound, pesticides, pollutants) with ASD to identify emerging opportunities for research and indicated studies.

* Environmental and biological risk factors during pre- and early post-natal development in "at risk" samples.

* Cross-disciplinary collaborative efforts to identify and analyze biological mechanisms that underliethe interplay of genetic and environmental factors relevant to the risk and development of ASD, including co-occurring conditions.

* Exposure assessment -- efficient and accurate measures of key exposures for use in population and clinic based studies and standards for sample collection, storage, and analysis of biological materials.

Short-Term Objectives

*Initiate studies on at least five environmental factorsidentified in the recommendations from the 2007 IOM report "Autism and the Environment: Challenges and Opportunities for Research" as potential causes of ASD by 2010. IACC Recommended Budget: $23,600,000 over 2 years.

* Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 for sequencing studies to examine more than 50 candidate genes by 2011. IACC Recommended Budget: $43,700,000 over 4 years.

* Within the highest priority categories of exposures for ASD,identify and standardize at least three measures for identifying markers of environmental exposure in biospecimens by 2011. IACC Recommended Budget: $3,500,000 over 3 years.

* Initiate efforts to expand existing large case-control and other studies to enhance capabilities for targeted gene - environment research by 2011. IACC Recommended Budget: $27,800,000 over 5 years.

* Determine the effect of at least five environmental factors on the risk for subtypes of ASD in the pre- and early postnatal period of development by 2015. IACC Recommended Budget: $25,100,000 over 7 years.

* Conduct a multi-site study of the subsequent pregnancies of 1,000 women with a child with ASD to assess the impact of environmental factors in a period most relevant to the progression of ASD by 2014. IACC Recommended Budget: $11,100,000 over 5 years.

* Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.

* Support ancillary studies within one or more large-scale, population-based surveillance and epidemiological studies, including U.S. populations, to collect nested, case-control data on environmental factors during preconception, and during prenatal and early postnatal development, as well as genetic data, that could be pooled (as needed), to analyze targets for potential gene/environment interactions by 2015. IACC Recommended Budget: $44,400,000 over 5 years."

MJ at Jabberwocky sees the new paper by Dr. Fombonne as an attempt to deny the existence of a real increase in autism disorders. He may be right but I think the Fombonne paper is better viewed as a reflection of the state of autism research in Canada. It is essentially a small, Montreal, Quebec based, old boys club, with research funding decisions emanating from the Institute of Neurosciences, Mental Health and Addiction, one of the 13 virtual institutes of the Canadian Institutes of Health Research. The previous (term expired December 31, 2008) Scientific Director of the Institute of Neurosciences, Mental Health and Addiction was neuroscientist Dr. Rémi Quirion, a McGill University Professor and Scientific Director at the Douglas Hospital Research Centre (a McGill affiliated teaching hospital).

Another of Canada's Montreal based leading autism researchers is Dr. Laurent Mottron. Dr. Mottron, along with his colleague Michelle Dawson, is an activist who has appeared before the Canadian Senate to argue against funding of ABA services for autistic children. The good Dr. Mottron also assisted Ms Dawson in her intervention before the Supreme Court of Canada in opposition to the families who were seeking confirmation of lower court decisions in Auton which directed the British Columbia government to fund ABA treatment for their children's autism disorders. Dr. Mottron is also a media darling in Canada, particularly at the publicly funded Canadian Broadcasting Corporation (CBC) where he has appeared on radio and television several times promoting a non-medical model of autism disorders.

Dr. Mottron, is also most likely the mysterious "Dr. M" who testified as an expert witness in Michelle Dawson's Canadian Human Rights Tribunal proceeding against Canada Post, Dawson v. Canada Post Corporation, 2008 CHRT 41. He testified that "the notion of curing autism is nonsensical":

"[86] Ms. Dawson testified that autism is a neurological disability and that people generally do not have a good understanding of this reality. Ms. Dawson stated repeatedly that autism was not a mental illness. For her, a mental illness has an onset, various treatments, and there is a return to the previous state to a greater or lesser degree. Both Ms. Dawson and Dr. M., as will be seen,pointed out that the notion of curing autism was nonsensical. Still many people want to cure autism.

...

[99] At the beginning of his testimony, Dr. M., who is a psychiatrist, was qualified by the Tribunal as an expert in autism. Dr. M. filed a report as well as three letters pertaining to Ms.Dawson’s condition.

[100] Dr. M. testified on the nature of autism, autistic individuals as well as on Ms. Dawson’s condition. The credibility of Dr. M. as well as the accuracy of his statements and opinions was not challenged by the Respondent. The Tribunal finds Dr. M.’s testimony highly credible even if the evidence shows that in recent years, Ms. Dawson has worked with him and has co-authored scientific articles with Dr. M.

In Canada the sorry state of autism research is represented by Dr. Fombonne's rehashing of statistical arguments denying increases in autism and avoiding exploration of possible environmental causes or factors related to autism disorders. In Canada the sorry state of autism research is also represented by Dr. Mottron's activism in opposition to government funding of ABA interventions for autistic children, his quixotic multiple media appearances, particularly on CBC programs from Quirks and Quarks to Positively Autistic, his promotion of a non-medical model of autism disorders, numerous research papers involving persons with high functioning autism (maybe someday he will get around to publishing some papers on those troublesome lower functioning persons with autistic disorders) and his testimony that the notion of curing autism is nonsensical.

Fortunately for autistic children and adults in Canada, and their families, real autism research is still being conducted in the United States where the search for causes of autism, and possible cures, is still alive and well.

2 comments:

"Ms. Dawson stated repeatedly that autism was not a mental illness. For her, a mental illness has an onset, various treatments, and there is a return to the previous state to a greater or lesser degree."

This really upsets me b/c those with Asperger's etc seem to think those on the other end of the scale aren't worthy of becoming independant adults and having lives.

What she's claiming is that I should have left my little one to sit in a corner and stay there. That he's not entitled to learn to read, talk, and even have a girlfriend one day.... that it isn't possible or else he doesn't have autism. And the fact that he's learned to read, write, spell and do math is a fluke... But it's NOT.... IMO they all can learn that much... someone has to be willing to teach them... But how horrible if we did.. that would be CURING AUTISM!!!! Can't do that, can we???

Then she and those like her wonder why every time I'm able to play "politics" I make certain her and those like her "don't talk for me".

101 Noteworthy Sites on Asperger's & Autism Spectrum Disorders

Facing Autism on Facebook

Why ABA For Autism?

The effectiveness of ABA-based intervention in ASDs has been well documented through 5 decades of research by using single-subject methodology21,25,27,28 and in controlled studies of comprehensive early intensive behavioral intervention programs in university and community settings.29–40 Children who receive early intensive behavioral treatment have been shown to make substantial, sustained gains in IQ, language, academic performance, and adaptive behavior as well as some measures of social behavior, and their outcomes have been significantly better than those of children in control groups.31–4American Academy of Pediatrics, Management of Children with Autism Spectrum Disorders

"We have to look also at environmental factors, and from my point of view, the interaction between the genetic factors and the environmental factors ... It looks like some shared environmental factors play a role in autism, and the study really points toward factors that are early in life that affect the development of the child"
Joachim Hallmayer, MD, associate professor of psychiatry at Stanford University in California

Even Out Environmental and Genetic Autism Research Funding

Right now, about 10 to 20 times more research dollars are spent on studies of the genetic causes of autism than on environmental ones.

We need to even out the funding.

Irva Hertz-Picciotto, UC Davis M.I.N.D. Institute Researcher

My Autism Pledge For Conor

Today I pledge to continue;I Pledge to continue to fight for the availability of effective autism treatments;I Pledge to continue to fight for a real education for autistic children;I Pledge to continue to fight for decent residential care for autistic adults;I Pledge to continue to fight for a cure for autism;I Pledge to continue finding joy in my son but not in the autism disorder that restricts his life;Today, and every day, I Pledge to continue to hope for a better life for Conor and others with autism, through accommodation, care, respect, treatment, and some day, a cure;Today, and every day, I Pledge to continue to fight for the best possible life for Conor, my son with autistic disorder.

Dr. Jon Poling : Blinders Won’t Reduce Autism

"Fortunately, the ‘better diagnosis’ myth has been soundly debunked. ... only a smaller percentage of this staggering rise can be explained by means other than a true increase.

Because purely genetic diseases do not rise precipitously, the corollary to a true autism increase is clear — genes only load the gun and it is the environment that pulls the trigger. Autism is best redefined as an environmental disease with genetic susceptibilities."

We should be investing our research dollars into discovering environmental factors that we can change, not more poorly targeted genetic studies that offer no hope of early intervention. Pesticides, mercury, aluminum, several drugs, dietary factors, infectious agents and yes — vaccines — are all in the research agenda.